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Copy number variation and neuropsychiatric problems in females and males in the general population

Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety...

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Autores principales: Martin, Joanna, Tammimies, Kristiina, Karlsson, Robert, Lu, Yi, Larsson, Henrik, Lichtenstein, Paul, Magnusson, Patrik K. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767107/
https://www.ncbi.nlm.nih.gov/pubmed/30307693
http://dx.doi.org/10.1002/ajmg.b.32685
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author Martin, Joanna
Tammimies, Kristiina
Karlsson, Robert
Lu, Yi
Larsson, Henrik
Lichtenstein, Paul
Magnusson, Patrik K. E.
author_facet Martin, Joanna
Tammimies, Kristiina
Karlsson, Robert
Lu, Yi
Larsson, Henrik
Lichtenstein, Paul
Magnusson, Patrik K. E.
author_sort Martin, Joanna
collection PubMed
description Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex‐specific effects. We analyzed a sample of N = 12,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3.0% had clinically diagnosed anxiety or depression. Rare (<1% frequency) CNVs were categorized by size (100–500 kb or > 500 kb), type, and putative relevance to NPs. We tested for association of CNV categories with outcomes and examined sex‐specific effects. Medium deletions (OR[CI] = 1.18[1.05–1.33], p = .0053) and large duplications (OR[CI] = 1.45[1.19–1.75], p = .00017) were associated with broadly defined NPs. Large deletions (OR[CI] = 1.85[1.14–3.01], p = .013) were associated with narrowly defined NPs. There were no significant sex differences in CNV burden in individuals with NPs. Although CNVs were not associated with anxiety/depression in the whole sample, in individuals diagnosed with these disorders, females were more likely to have large CNVs (OR[CI] = 3.75[1.45–9.68], p = .0064). Rare CNVs are associated with both narrowly and broadly defined NPs in a general population sample of children. Our results also suggest that large, rare CNVs may show sex‐specific phenotypic effects.
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spelling pubmed-67671072019-10-01 Copy number variation and neuropsychiatric problems in females and males in the general population Martin, Joanna Tammimies, Kristiina Karlsson, Robert Lu, Yi Larsson, Henrik Lichtenstein, Paul Magnusson, Patrik K. E. Am J Med Genet B Neuropsychiatr Genet Research Articles Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex‐specific effects. We analyzed a sample of N = 12,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3.0% had clinically diagnosed anxiety or depression. Rare (<1% frequency) CNVs were categorized by size (100–500 kb or > 500 kb), type, and putative relevance to NPs. We tested for association of CNV categories with outcomes and examined sex‐specific effects. Medium deletions (OR[CI] = 1.18[1.05–1.33], p = .0053) and large duplications (OR[CI] = 1.45[1.19–1.75], p = .00017) were associated with broadly defined NPs. Large deletions (OR[CI] = 1.85[1.14–3.01], p = .013) were associated with narrowly defined NPs. There were no significant sex differences in CNV burden in individuals with NPs. Although CNVs were not associated with anxiety/depression in the whole sample, in individuals diagnosed with these disorders, females were more likely to have large CNVs (OR[CI] = 3.75[1.45–9.68], p = .0064). Rare CNVs are associated with both narrowly and broadly defined NPs in a general population sample of children. Our results also suggest that large, rare CNVs may show sex‐specific phenotypic effects. John Wiley & Sons, Inc. 2018-10-11 2019-09 /pmc/articles/PMC6767107/ /pubmed/30307693 http://dx.doi.org/10.1002/ajmg.b.32685 Text en © 2018 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Martin, Joanna
Tammimies, Kristiina
Karlsson, Robert
Lu, Yi
Larsson, Henrik
Lichtenstein, Paul
Magnusson, Patrik K. E.
Copy number variation and neuropsychiatric problems in females and males in the general population
title Copy number variation and neuropsychiatric problems in females and males in the general population
title_full Copy number variation and neuropsychiatric problems in females and males in the general population
title_fullStr Copy number variation and neuropsychiatric problems in females and males in the general population
title_full_unstemmed Copy number variation and neuropsychiatric problems in females and males in the general population
title_short Copy number variation and neuropsychiatric problems in females and males in the general population
title_sort copy number variation and neuropsychiatric problems in females and males in the general population
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6767107/
https://www.ncbi.nlm.nih.gov/pubmed/30307693
http://dx.doi.org/10.1002/ajmg.b.32685
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